Histiocytosis

Definition

Histiocytosis is a general name for a group of disorders or "syndromes" that involve an abnormal increase in the number of specialized white blood cells that are called histiocytes.

Recently, new knowledge about this family of diseases has led experts to develop new classifications. Five categories have been proposed:

L group -- includes Langerhans cell histiocytosis

C group -- includes non- Langerhans cell histiocytosis that involves the skin

M group -- includes malignant histiocytosis

R group -- includes Rosai-Dorfman disease

H Group -- includes hemophagocytic lymphohistiocytosis

This article focuses only on the L group, which includes Langerhans cell histiocytosis.

Alternative Names

Langerhans cell histiocytosis; Eosinophilic granuloma

Causes

There has been debate as to whether Langerhans cell histiocytosis is an inflammatory, immune disorder, or a cancer-like condition. Recently, the era of genomics has helped show that Langerhans cell histiocytosis is likely due to acquired changes in the genes (mutations) in early white blood cells, which leads to abnormal behavior. The abnormal cells then increase in various parts of body including the bones, skin, lungs, and other areas.

Langerhans cell histiocytosis is a rare disorder that can affect people of all ages. The highest rate is among children ages 5 to 10. Some forms of the disorder are genetic, which means they are inherited.

Pulmonary histiocytosis X is a specific type of histiocytosis X that involves swelling of the small airways and small blood vessels in the lungs. This inflammation leads to lung stiffening and damage. It is most common in 30 to 40 year old adults, who most often smoke cigarettes. The cause is unknown.

Symptoms

Histiocytosis X often affects the whole body. A disease that affects the whole body is called a "systemic" disorder.

Symptoms can vary between children and adults, but they may have some of the same symptoms. Tumors in weight-bearing bones, such as the legs or spine, may cause the bones to fracture without an obvious reason.

Symptoms in children may include:

Abdominal pain

Bone pain (possibly)

Delayed puberty

Dizziness

Ear drainage that continues long-term

Eyes that appear to stick out more and more

Irritability

Failure to thrive

Fever

Frequent urination

Headache

Jaundice

Limping

Mental decline

Rash

Seborrheic dermatitis of the scalp

Seizures

Short stature

Swollen lymph glands

Thirst

Vomiting

Weight loss

Note: Children over 5 years old often have only bone involvement.

Symptoms in adults may include:

Bone pain

Chest pain

Cough

Fever

General discomfort, uneasiness, or ill feeling

Increased amount of urine

Rash

Shortness of breath

Thirst and increased drinking of fluids

Weight loss

Exams and Tests

There are no specific blood tests for Langerhans cell histiocytosis.The tumors produce a "punched-out" look on a bone x-ray. Specific tests vary, depending on the age of the person.

Tests for children may include:

Biopsy of skin to check for Langerhans cells

Bone marrow biopsy to check for Langerhans cells

Complete blood count (CBC)

X-rays of all the bones in the body to find out how many bones are affected

Test for a gene mutation in BRAF V600E

Tests for adults may also include:

Bronchoscopy with biopsy

Chest x-ray

Pulmonary function tests

Langerhans cell histiocytosis is sometimes linked to cancer. CT scans and biopsy should be done to rule out possible cancer.

Treatment

Langerhans cell histiocytosis is such a rare disorder that information about the best possible treatment is limited. For this reason, people with the condition are encouraged to take part in a well-designed clinical trial.

People with Langerhans cell histiocytosis involving only a single place such as bone or skin may be treated with local surgery. However, they will need close follow-up to look for disease spread.

People with widespread Langerhans cell histiocytosis require medicines. In most cases, prednisone and vinblastine are the first drugs tried. Smoking may worsen the response to treatment and should be stopped.

Other medicines or treatments may be used, depending on the outlook (prognosis) and response to the starting medicines. Such treatments may include:

Support Groups

Outlook (Prognosis)

Langerhans cell histiocytosis affects many organs and can lead to death.

About one half of those with pulmonary histiocytosis improve, while others have permanent loss of lung function over time.

In very young people, the outlook depends on the specific histiocytosis and how severe it is. Some children can live a normal life with minimal disease involvement, while others do poorly. Young children, especially infants, are more likely to have bodywide symptoms that lead to death.

Possible Complications

Complications may include:

Diffuse interstitial pulmonary fibrosis (deep lung tissues that become inflamed and then damaged)

Spontaneous collapsed lung

Children may also develop:

Anemia caused by spreading of the tumors to the bone marrow

Diabetes insipidus (a rare form of diabetes)

Lung problems that lead to lung failure

Problems with the pituitary gland that lead to growth failure

When to Contact a Medical Professional

Call your health care provider if you or your child has symptoms of this disorder. Go to the emergency room if shortness of breath or chest pain develops.

Prevention

Avoid smoking. Quitting smoking can improve the outcome in people with Langerhans cell histiocytosis that affects the lungs.

Version Info

Last reviewed on 6/9/2016

Gordon A. Starkebaum, MD, Professor of Medicine, Division of Rheumatology, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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